Short-rib thoracic dysplasia with or without polydactyly 02
Short-rib thoracic dysplasia with or without polydactyly type 2 is an autosomal recessive or digenic recessive disorder caused by mutations in the IFT80 gene.
Beales PL et. al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.[^]
Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.[^]
Cavalcanti DP et. al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.[^]
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Huber C et. al. (2012) Ciliary disorder of the skeleton.[^]